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  • Whole Exome Sequencing Amon...
    Rakela, Jorge; Dehankar, Mrunal K; Baheti, Saurabh

    Clinical and translational gastroenterology, 08/2020, Letnik: 11, Številka: 8
    Journal Article

    In the FAQ page of this software, it recommends not switching from version 2: “The gnomAD v2 call set contains fewer whole genomes than v3 but also contains a very large number of exomes that substantially increase its power as a reference in coding regions. ...gnomAD v2 is still our recommended dataset for most coding regions analyses” (https://gnomad.broadinstitute.org/faq#should-i-switch-to-the-latest-version-of-gnomad). ExAC (r0.3_GRCh38: 60,706 unrelated individuals from 17 disease-specific and population genetic studies, excluding individuals affected by a severe pediatric disease) 1000G (20130502_GRCh38: integrated set of SNPs, indels, MNPs, long insertions and deletions, copy number variations, and other types of structural variations discovered and genotyped in 2,504 unrelated individuals), and Mayo Clinic Biobank (funded by a Mayo Clinic initiative for Individualized Medicine to assist investigators throughout the institution in obtaining “normal” samples to serve as controls for their patient populations, 982 whole genome samples) Furthermore, as explained in our study, we divided 26 patients into the following 2 groups: 8 patients who survived spontaneously from their acute liver failure (ALF) episode of indeterminate etiology and 18 patients with the same diagnosis who died or underwent liver transplant. See PDF Given the small cohort size of our pilot study, we intend to expand our study to a larger population with ALF of indeterminate etiology and compare their variants distribution with patients with ALF associated with viral hepatitis, ALF associated with drug-induced liver injury, and autoimmune ALF.